S163G (p.Ser163Gly) variant of L1CAM (Neural cell adhesion molecule L1)
S163G (p.Ser163Gly) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
S163G (p.Ser163Gly) variant details
- p.Ser163Gly
- rs1603276226
- ClinGen CA415136462
- ClinVar RCV000803125
- TOPMed rs1603276226
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -0.96
- PolyPhen-2 0.09
- SIFT 1.00
- EVE 0.19
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available